G35V (p.Gly35Val) variant of DSP (Desmoplakin)
G35V (p.Gly35Val) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- NCI-TCGA TCGA novel
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.37
- MetaLR 0.28
- MetaSVM -0.64
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available